ClinVar Miner

List of variants in gene CBL reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.*4931T>C rs2510145 0.99416
NM_005188.4(CBL):c.*4584C>A rs2509671 0.41211
NM_005188.4(CBL):c.*7447A>G rs11217234 0.24836
NM_005188.4(CBL):c.*2045A>G rs1047417 0.23910
NM_005188.4(CBL):c.*5907T>C rs2511844 0.16216
NM_005188.4(CBL):c.*1915T>C rs1918 0.09984
NM_005188.4(CBL):c.*6008T>C rs3829261 0.06150
NM_005188.4(CBL):c.*4085C>G rs11604328 0.05229
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_005188.4(CBL):c.*8149A>G rs11243 0.03092
NM_005188.4(CBL):c.*7978A>G rs2511836 0.03043
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_005188.4(CBL):c.*3096C>G rs150053029 0.01735
NM_005188.4(CBL):c.*5648T>C rs79889393 0.01326
NM_005188.4(CBL):c.*4302C>T rs114801312 0.01320
NM_005188.4(CBL):c.*3167G>A rs145419944 0.01317
NM_005188.4(CBL):c.*2423C>T rs117804312 0.01166
NM_005188.4(CBL):c.*1856T>C rs75631490 0.00922
NM_005188.4(CBL):c.*4868T>C rs150159135 0.00899
NM_005188.4(CBL):c.*3854G>A rs115544781 0.00896
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_005188.4(CBL):c.*5123C>T rs149560809 0.00733
NM_005188.4(CBL):c.*4088C>T rs140837295 0.00731
NM_005188.4(CBL):c.*8048G>A rs151221935 0.00721
NM_005188.4(CBL):c.*1038del rs555529036 0.00550
NM_005188.4(CBL):c.*1447A>G rs148077385 0.00548
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.*5632C>T rs143069410 0.00384
NM_005188.4(CBL):c.*2176T>C rs143211426 0.00375
NM_005188.4(CBL):c.*4031C>G rs117973382 0.00313
NM_005188.4(CBL):c.*567G>A rs573261482 0.00285
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.*3656C>T rs145348523 0.00225
NM_005188.4(CBL):c.*1918C>T rs528450894 0.00210
NM_005188.4(CBL):c.*1686A>C rs147266033 0.00194
NM_005188.4(CBL):c.*6648T>G rs544221090 0.00176
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.*4118A>G rs192175025 0.00155
NM_005188.4(CBL):c.*1594T>A rs193152909 0.00153
NM_005188.4(CBL):c.*5756G>A rs542978255 0.00148
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.*6732C>A rs140028176 0.00135
NM_005188.4(CBL):c.*5718C>A rs572014227 0.00123
NM_005188.4(CBL):c.*5717T>G rs547307186 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005188.4(CBL):c.*239A>G rs140332874 0.00095
NM_005188.4(CBL):c.*6703T>C rs562568416 0.00091
NM_005188.4(CBL):c.*7366C>T rs534426893 0.00086
NM_005188.4(CBL):c.*918T>C rs541035764 0.00083
NM_005188.4(CBL):c.*6575G>C rs569180524 0.00077
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005188.4(CBL):c.*3154C>T rs112984401 0.00073
NM_005188.4(CBL):c.*2224A>G rs550910545 0.00065
NM_005188.4(CBL):c.*1733T>G rs190569484 0.00062
NM_005188.4(CBL):c.*3578A>T rs140313356 0.00058
NM_005188.4(CBL):c.*5987A>T rs150688966 0.00056
NM_005188.4(CBL):c.*1933C>T rs529781104 0.00050
NM_005188.4(CBL):c.*7143A>C rs146650854 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_005188.4(CBL):c.*5811C>T rs569624112 0.00046
NM_005188.4(CBL):c.*7924C>A rs758281196 0.00046
NM_005188.4(CBL):c.*950G>T rs886047775 0.00046
NM_005188.4(CBL):c.*2697C>T rs118116976 0.00042
NM_005188.4(CBL):c.*2619C>T rs147497664 0.00039
NM_005188.4(CBL):c.*513A>G rs138124151 0.00039
NM_005188.4(CBL):c.*7314T>C rs144022588 0.00039
NM_005188.4(CBL):c.1564-13C>T rs117902985 0.00039
NM_005188.4(CBL):c.*337A>C rs570986029 0.00038
NM_005188.4(CBL):c.*39G>A rs17848890 0.00035
NM_005188.4(CBL):c.*8058C>T rs569107221 0.00032
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005188.4(CBL):c.*4877G>A rs532404515 0.00029
NM_005188.4(CBL):c.*6678G>A rs1033501528 0.00024
NM_005188.4(CBL):c.*7678G>A rs540742677 0.00023
NM_005188.4(CBL):c.*5008C>G rs548349917 0.00022
NM_005188.4(CBL):c.*6767C>G rs539341635 0.00022
NM_005188.4(CBL):c.*6542T>G rs550863116 0.00020
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005188.4(CBL):c.*5044C>T rs956413373 0.00016
NM_005188.4(CBL):c.*4140G>A rs886047791 0.00013
NM_005188.4(CBL):c.*5986T>C rs764329156 0.00013
NM_005188.4(CBL):c.*8017G>A rs533150203 0.00013
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005188.4(CBL):c.*1158A>G rs560822342 0.00010
NM_005188.4(CBL):c.*4029C>T rs563585627 0.00010
NM_005188.4(CBL):c.*4177C>T rs886047792 0.00010
NM_005188.4(CBL):c.*329A>G rs145498486 0.00009
NM_005188.4(CBL):c.*4227C>T rs750704582 0.00009
NM_005188.4(CBL):c.*8318C>T rs942482775 0.00009
NM_005188.4(CBL):c.*1059G>A rs544728305 0.00008
NM_005188.4(CBL):c.*4849A>C rs886047796 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_005188.4(CBL):c.*1164T>G rs1190145121 0.00007
NM_005188.4(CBL):c.*5093C>G rs757662885 0.00007
NM_005188.4(CBL):c.*5885A>G rs148553071 0.00007
NM_005188.4(CBL):c.*6175A>G rs775450592 0.00007
NM_005188.4(CBL):c.*986A>C rs886047776 0.00007
NM_005188.4(CBL):c.*2105T>C rs1051083897 0.00006
NM_005188.4(CBL):c.*6795A>G rs185187005 0.00006
NM_005188.4(CBL):c.*6806T>C rs776910322 0.00006
NM_005188.4(CBL):c.*932A>G rs886047774 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.*282C>G rs886047773 0.00005
NM_005188.4(CBL):c.*4959C>T rs886047797 0.00005
NM_005188.4(CBL):c.*6099A>G rs575606651 0.00005
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.*1252G>A rs961476506 0.00004
NM_005188.4(CBL):c.*1884C>T rs772494648 0.00004
NM_005188.4(CBL):c.*3437C>T rs774175986 0.00004
NM_005188.4(CBL):c.*3622T>C rs1023495416 0.00004
NM_005188.4(CBL):c.*3714C>T rs886047790 0.00004
NM_005188.4(CBL):c.*3978G>C rs752715099 0.00004
NM_005188.4(CBL):c.*6528T>C rs1027364028 0.00004
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) rs371850672 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.*1487A>G rs780157945 0.00003
NM_005188.4(CBL):c.*1581G>A rs985042927 0.00003
NM_005188.4(CBL):c.*1965G>A rs886047781 0.00003
NM_005188.4(CBL):c.*2554G>C rs886047784 0.00003
NM_005188.4(CBL):c.*5618G>A rs936515006 0.00003
NM_005188.4(CBL):c.*6980T>C rs886047808 0.00003
NM_005188.4(CBL):c.*7167A>C rs886047812 0.00003
NM_005188.4(CBL):c.1353C>T (p.Pro451=) rs201616881 0.00003
NM_005188.4(CBL):c.1776C>T (p.Pro592=) rs886047769 0.00003
NM_005188.4(CBL):c.869+15G>A rs761328610 0.00003
NM_005188.4(CBL):c.*2147C>G rs574006776 0.00002
NM_005188.4(CBL):c.*2174G>A rs938383932 0.00002
NM_005188.4(CBL):c.*4542C>T rs1433663090 0.00002
NM_005188.4(CBL):c.*5139C>T rs886047799 0.00002
NM_005188.4(CBL):c.*6126T>A rs886047803 0.00002
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294 0.00002
NM_005188.4(CBL):c.*1258G>A rs886047777 0.00001
NM_005188.4(CBL):c.*2008A>T rs1483681182 0.00001
NM_005188.4(CBL):c.*3336A>G rs886047789 0.00001
NM_005188.4(CBL):c.*4019G>A rs1369491273 0.00001
NM_005188.4(CBL):c.*4038A>G rs754325180 0.00001
NM_005188.4(CBL):c.*4337C>T rs773126690 0.00001
NM_005188.4(CBL):c.*43G>A rs753607176 0.00001
NM_005188.4(CBL):c.*4755A>C rs190266043 0.00001
NM_005188.4(CBL):c.*4818C>T rs886047794 0.00001
NM_005188.4(CBL):c.*5183C>T rs376394251 0.00001
NM_005188.4(CBL):c.*5379G>T rs1950126052 0.00001
NM_005188.4(CBL):c.*5944C>T rs962509368 0.00001
NM_005188.4(CBL):c.*5953C>G rs1216868913 0.00001
NM_005188.4(CBL):c.*6261A>T rs1343711218 0.00001
NM_005188.4(CBL):c.*6265C>A rs886047804 0.00001
NM_005188.4(CBL):c.*6484G>A rs752004590 0.00001
NM_005188.4(CBL):c.*6532A>G rs1374763076 0.00001
NM_005188.4(CBL):c.*7761G>A rs745412309 0.00001
NM_005188.4(CBL):c.*7903G>A rs201889676 0.00001
NM_005188.4(CBL):c.1094A>G (p.Gln365Arg) rs756742202 0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_005188.4(CBL):c.1193A>C (p.His398Pro) rs1303812580 0.00001
NM_005188.4(CBL):c.1399C>G (p.Leu467Val) rs771673435 0.00001
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr) rs763666786 0.00001
NM_005188.4(CBL):c.1829C>A (p.Thr610Lys) rs730880427 0.00001
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp) rs587778155 0.00001
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) rs774428573 0.00001
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal) rs777761446 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.625C>G (p.Leu209Val) rs767162260 0.00001
NM_005188.4(CBL):c.839G>A (p.Arg280Gln) rs145155035 0.00001
NM_005188.4(CBL):c.*1661G>T rs886047778
NM_005188.4(CBL):c.*1711T>C rs886047779
NM_005188.4(CBL):c.*1712A>G rs955215944
NM_005188.4(CBL):c.*1732del rs549459958
NM_005188.4(CBL):c.*2129dup rs886047782
NM_005188.4(CBL):c.*2137C>T rs886047783
NM_005188.4(CBL):c.*2762dup rs886047785
NM_005188.4(CBL):c.*3026C>T rs886047786
NM_005188.4(CBL):c.*3031A>C rs1950110710
NM_005188.4(CBL):c.*3106del rs886047787
NM_005188.4(CBL):c.*3153C>T rs964570263
NM_005188.4(CBL):c.*3241dup rs79093187
NM_005188.4(CBL):c.*3272T>C rs148606028
NM_005188.4(CBL):c.*3399T>C rs1950113170
NM_005188.4(CBL):c.*365_*366insGG rs397958007
NM_005188.4(CBL):c.*3950T>C rs1950116455
NM_005188.4(CBL):c.*4390C>G rs886047793
NM_005188.4(CBL):c.*4667G>A rs886562978
NM_005188.4(CBL):c.*4716C>G rs1475009534
NM_005188.4(CBL):c.*4863dup rs572265582
NM_005188.4(CBL):c.*5006A>G rs1950123628
NM_005188.4(CBL):c.*5134G>A rs886047798
NM_005188.4(CBL):c.*5136G>A rs985019007
NM_005188.4(CBL):c.*559_*560insCAA rs3833768
NM_005188.4(CBL):c.*560A>T rs202218081
NM_005188.4(CBL):c.*5637A>C rs748854642
NM_005188.4(CBL):c.*5771T>A rs886047800
NM_005188.4(CBL):c.*5860T>C rs886047801
NM_005188.4(CBL):c.*5986del rs541615597
NM_005188.4(CBL):c.*6362G>A rs886047805
NM_005188.4(CBL):c.*6429T>C rs1950139475
NM_005188.4(CBL):c.*6430G>C rs886047806
NM_005188.4(CBL):c.*660A>G rs1019106598
NM_005188.4(CBL):c.*6712C>G rs1950142606
NM_005188.4(CBL):c.*6729C>T rs1950142754
NM_005188.4(CBL):c.*6872A>T rs1950144572
NM_005188.4(CBL):c.*6933C>A rs886047807
NM_005188.4(CBL):c.*7030T>G rs573405123
NM_005188.4(CBL):c.*7081T>G rs886047809
NM_005188.4(CBL):c.*7170_*7173del rs112360309
NM_005188.4(CBL):c.*7173del rs112360309
NM_005188.4(CBL):c.*7241A>G rs1950148768
NM_005188.4(CBL):c.*7559C>G rs1052121
NM_005188.4(CBL):c.*7578TC[1] rs376134331
NM_005188.4(CBL):c.*7601G>A rs1489248573
NM_005188.4(CBL):c.*7659C>A rs567049953
NM_005188.4(CBL):c.*7659C>G rs567049953
NM_005188.4(CBL):c.*7659C>T rs567049953
NM_005188.4(CBL):c.*7689C>G rs187961956
NM_005188.4(CBL):c.*7855C>T rs1950156118
NM_005188.4(CBL):c.*7878C>T rs1950156420
NM_005188.4(CBL):c.*7904G>A rs886047813
NM_005188.4(CBL):c.*7949C>A rs142183037
NM_005188.4(CBL):c.*8012T>C rs573686690
NM_005188.4(CBL):c.*8164_*8167del rs886047814
NM_005188.4(CBL):c.*8288GTTA[1] rs563997189
NM_005188.4(CBL):c.-41C>T rs751528430
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1227+10T>C rs886047768
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1497A>G (p.Arg499=) rs1949969920
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.4(CBL):c.1692C>T (p.Pro564=) rs1300224054
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala) rs1340017837
NM_005188.4(CBL):c.1831G>C (p.Gly611Arg)
NM_005188.4(CBL):c.1967G>A (p.Gly656Asp) rs886047770
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.2096A>G (p.Glu699Gly) rs866325598
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys) rs1285510326
NM_005188.4(CBL):c.296T>C (p.Leu99Ser) rs1949511665
NM_005188.4(CBL):c.367A>T (p.Met123Leu) rs1949512275
NM_005188.4(CBL):c.686A>T (p.Asp229Val) rs1414848678
NM_005188.4(CBL):c.852C>T (p.Phe284=) rs745855639

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